ClinVar Miner

Submissions for variant NM_003738.5(PTCH2):c.2019del (p.Tyr674fs)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV003074413 SCV003454743 uncertain significance Gorlin syndrome 2022-06-09 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Tyr674Ilefs*26) in the PTCH2 gene. It is expected to result in an absent or disrupted protein product. However, the current clinical and genetic evidence is not sufficient to establish whether loss-of-function variants in PTCH2 cause disease. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. This variant has not been reported in the literature in individuals affected with PTCH2-related conditions. This variant is present in population databases (rs769826884, gnomAD 0.01%).
Fulgent Genetics, Fulgent Genetics RCV005019619 SCV005650030 uncertain significance Basal cell carcinoma, susceptibility to, 1; Medulloblastoma 2024-06-05 criteria provided, single submitter clinical testing

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